NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003450162.1
Allele description [Variation Report for NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)]
NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)
Condition(s)
- Name:
- Lynch syndrome 1
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435
-
UI-E-CK1-abr-d-02-0-UI.s1 UI-E-CK1 Homo sapiens cDNA clone UI-E-CK1-abr-d-02-0-U...
UI-E-CK1-abr-d-02-0-UI.s1 UI-E-CK1 Homo sapiens cDNA clone UI-E-CK1-abr-d-02-0-UI 3', mRNA sequencegi|18965789|gnl|dbEST|11242706|gb|B 73.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024